Canonical Allele Identifier: CA335700

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 216853
• ClinVar RCV Id: RCV000195447 ; RCV000241438
• dbSNP Id: rs863224825
• gnomAD v4: 13-32338529-GT-G
• MyVariant Identifiers: chr13:g.32912668del (hg19) ; chr13:g.32338531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338531del , CM000675.2:g.32338531del	GRCh38
NC_000013.10:g.32912668del , CM000675.1:g.32912668del	GRCh37
NC_000013.9:g.31810668del	NCBI36
NG_012772.3:g.28052del , LRG_293:g.28052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4176del	ENSP00000434898.2:p.Ala1393ArgfsTer17
ENST00000528762.2:c.4176del	ENSP00000433168.2:p.Ala1393ArgfsTer17
ENST00000530893.7:c.3807del	ENSP00000499438.2:p.Ala1270ArgfsTer17
ENST00000665585.2:c.4176del	ENSP00000499570.2:p.Ala1393ArgfsTer17
ENST00000666593.2:c.4176del	ENSP00000499256.2:p.Ala1393ArgfsTer17
ENST00000700202.2:c.4176del	ENSP00000514856.2:p.Ala1393ArgfsTer17
ENST00000380152.8:c.4176del MANE Select	ENSP00000369497.3:p.Ala1393ArgfsTer17
ENST00000544455.6:c.4176del	ENSP00000439902.1:p.Ala1393ArgfsTer17
ENST00000614259.2:c.4176del	ENSP00000506251.1:p.Ala1393ArgfsTer17
ENST00000680887.1:c.4176del	ENSP00000505508.1:p.Ala1393ArgfsTer17
ENST00000380152.7:c.4176del	ENSP00000369497.3:p.Ala1393ArgfsTer17
ENST00000544455.5:c.4176del	ENSP00000439902.1:p.Ala1393ArgfsTer17
ENST00000614259.1:n.4176del
NM_000059.3:c.4176del , LRG_293t1:c.4176del	NP_000050.2:p.Ala1393ArgfsTer17
XM_011535203.1:c.4176del	XP_011533505.1:p.Ala1393ArgfsTer17
XM_011535204.1:c.4176del	XP_011533506.1:p.Ala1393ArgfsTer17
XM_011535205.1:c.4176del	XP_011533507.1:p.Ala1393ArgfsTer17
NM_000059.4:c.4176del MANE Select	NP_000050.3:p.Ala1393ArgfsTer17